P10S (p.Pro10Ser) variant of C9ORF72 (Q96LT7)
P10S (p.Pro10Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- ExAC rs749975238
- TOPMed rs749975238
- gnomAD rs749975238
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.23
- AlphaMissense 0.98
- MetaLR 0.27
- MetaSVM -0.70
- CADD 24.00
- PolyPhen-2 1.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available